Canonical Allele Identifier: CA10653305

Gene: STX16 STX16-NPEPL1

Linked Data

• ClinVar Variation Id: 339080
• ClinVar RCV Id: RCV000392781
• dbSNP Id: rs886056859
• MyVariant Identifiers: chr20:g.57253111C>T (hg19) ; chr20:g.58678055C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58678055C>T , CM000682.2:g.58678055C>T	GRCh38
NC_000020.10:g.57253111C>T , CM000682.1:g.57253111C>T	GRCh37
NC_000020.9:g.56686517C>T	NCBI36
NG_011831.2:g.31784C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355957.9:c.*1764C>T (STX16)	ENSP00000348229.5:n.*1764C>T
ENST00000358029.8:c.*1764C>T (STX16)	ENSP00000350723.4:n.*1764C>T
ENST00000359617.8:c.*1764C>T (STX16)	ENSP00000352634.4:n.*1764C>T
ENST00000361830.7:c.*1764C>T (STX16)	ENSP00000354445.4:n.*1764C>T
ENST00000371132.8:c.*1764C>T (STX16)	ENSP00000360173.4:n.*1764C>T
ENST00000371141.8:c.*1764C>T (STX16) MANE Select	ENSP00000360183.4:n.*1764C>T
ENST00000413559.1:n.74+4344C>T (STX16-NPEPL1)
ENST00000530122.1:c.873+4344C>T (STX16-NPEPL1)	ENSP00000457522.1:n.873+4344C>T
NM_001001433.2:c.*1764C>T (STX16)	NP_001001433.1:n.*1764C>T
NM_001134772.2:c.*1764C>T (STX16)	NP_001128244.1:n.*1764C>T
NM_001134773.2:c.*1764C>T (STX16)	NP_001128245.1:n.*1764C>T
NM_001204868.1:c.*1764C>T (STX16)	NP_001191797.1:n.*1764C>T
NM_003763.5:c.*1764C>T (STX16)	NP_003754.2:n.*1764C>T
NR_037941.1:n.3282C>T (STX16)
NR_037942.1:n.2675C>T (STX16)
NR_037943.1:n.2632C>T (STX16)
NR_037945.1:n.1627+4344C>T (STX16-NPEPL1)
NM_001001433.3:c.*1764C>T (STX16) MANE Select	NP_001001433.1:n.*1764C>T
NM_001134772.3:c.*1764C>T (STX16)	NP_001128244.1:n.*1764C>T
NM_001134773.3:c.*1764C>T (STX16)	NP_001128245.1:n.*1764C>T
NM_001204868.2:c.*1764C>T (STX16)	NP_001191797.1:n.*1764C>T
NM_003763.6:c.*1764C>T (STX16)	NP_003754.2:n.*1764C>T
NR_037941.2:n.3252C>T (STX16)
NR_037942.2:n.2645C>T (STX16)
NR_037943.2:n.2602C>T (STX16)